What are Thalassemias?
Thalassemias are inherited disorders characterized by abnormal production of hemoglobin, a protein in red blood cells that carries oxygen. They result in low hemoglobin production, and destruction of red blood cells. These diseases usually occur only in people who have at least two abnormal genes. Carriers (people with only one abnormal gene) usually do not have any problems, unless they carry other abnormal genes that interact with the thalassemia gene.
Symptoms
- Fatigue
- Shortness of breath
- Jaundice
- Bone deformities in the face
Diagnosis
- Enlarged spleen
- Peripheral blood smear shows small, abnormally-shaped red blood cells
- Complete blood count shows anemia
- Hemoglobin electrophoresis shows abnormal hemoglobin
Treatment
Regular blood transfusions and folate supplements are treatments for severe thalassemia. Medications are needed to remove excess iron in patients receiving transfusions frequently.
Thalassemia is treated by our Division of Pediatric Hematology.